The South African Medical Research Council (SAMRC) proudly congratulates Professor Shahida Moosa, a beneficiary of its SAMRC Early Investigators Programme (EIP) on receiving the prestigious NSTF/SAMRC Clinician Scientist Award for 2025— widely regarded as the “Science Oscars” of South Africa.
Professor Moosa, Head of Medical Genetics at Tygerberg Hospital and a Professor at Stellenbosch University, was honoured for her pioneering Genomics for Health in Africa project — the first initiative of its kind in sub-Saharan Africa. The project aims to provide life-changing diagnoses for millions of Africans living with undiagnosed rare diseases and familial cancers.
Her work is transforming the landscape of clinical genomics and precision medicine on the continent. Among her groundbreaking achievements is the establishment of Africa’s first Undiagnosed Disease Programme (UDP), which is already offering hope to families who have long sought answers.
Reflecting on her journey, Professor Moosa credited the SAMRC and its Early Investigators Programme with helping her reach this milestone: “I have to share my achievements with you, because none of this work would have been possible without your support — especially through the EIP. The SAMRC funds many researchers, but I think the EIP is the most special programme — you take a chance on us as emerging researchers and provide us with the wind to take flight. In my case, your support for my dual role as clinician and scientist has been, and continues to be, invaluable.”
The SAMRC’s Early Investigators Programme was established to provide early-career researchers with critical funding, mentorship, and a platform to build sustainable and impactful research careers. By identifying and investing in talented scientists, the EIP empowers them to address South Africa’s most pressing health challenges through innovation and evidence-based solutions.
Prof Moosa has previously received the John M. Opitz Young Investigator Award from the American Journal of Medical Genetics. Her research programme focuses on undiagnosed diseases in South Africa and her work illuminates the path to a brighter future for countless patients and families in Africa. Also, as the only medical geneticist in South Africa with an NRF C2 rating, Prof Moosa's career trajectory serves as an inspiration to aspiring researchers, particularly women and underrepresented minorities. The NSTF/SAMRC Clinician Scientist Award highlights the pivotal role played by the SAMRC's RCD funding programme in her career and research.
“Professor Moosa’s achievement is a powerful demonstration of the impact of strategic investment in emerging researchers,” said Dr Abeda Dawood, Division Manager of the SAMRC’s Research Capacity Development division. “Her success not only honours her individual brilliance but also underscores the importance of our programmes in building a robust, world-class health research ecosystem for South Africa.
Reflecting on the societal impact of the project funded by SAMRC, Prof Moosa indicated:
"The Genomics for Health in Africa project is tackling the long-standing inequities in genetic healthcare by bringing cutting-edge genomic testing and analysis directly to communities that have historically been excluded from such advances. We focus on diagnosing rare and inherited conditions in African patients—whose genomic data is vastly underrepresented in global reference databases—so that they can be provided with definitive answers and appropriate care, but also so that they are no longer invisible in medical research. By building local capacity in medical genetics, genetic counselling, clinical laboratory science, and bioinformatics, and by training African clinicians and scientists, we ensure that these solutions are sustainable. Ultimately, this project shortens the diagnostic odyssey, enables targeted precision treatment, and empowers families with knowledge that can positively transform their health outcomes."
"Through this project, we have transformed the lives of hundreds of patients and families who have spent years searching for answers. Among our most significant breakthroughs are the identification of novel disease-causing genes and the discovery of African-specific variants in known genes, which were previously absent in global databases. These findings have led to the “first-ever” diagnoses for many patients, enabling tailored management plans, access to appropriate therapies, and informed family planning. In some cases, early and accurate diagnosis has prevented invasive and unnecessary procedures. Equally important, we have built a collaborative network of clinicians, scientists, and patient advocates across the country and the region, ensuring that rare disease patients in southern Africa are no longer isolated, but part of a community with real pathways to care."
"Unlike most existing precision medicine initiatives—which are concentrated in high-income countries—Genomics for Health in Africa is pioneering an approach that is rooted in, and tailored for, the realities of sub-Saharan Africa, where there are currently no large-scale precision medicine programmes. Our work integrates cutting-edge genomics with deep local clinical expertise, ensuring that African patients are represented in genomic databases and that their unique genetic variation is understood. We prioritise equitable access, capacity-building, and sustainable infrastructure so that precision medicine is not an imported model, but one that is developed and led from within Africa. This means our approach not only delivers diagnoses and targeted interventions for African patients, but also reshapes the global understanding of human genetic diversity."
Regarding the impact and contribution of the Genomics for Health in Africa project to advancing science and healthcare infrastructure on the continent, Prof Moosa further commented that:
"Implementing Genomics for Health in Africa has meant confronting deeply rooted challenges — from the absence of genomic infrastructure in many regions, to a shortage of trained specialists, to the need for culturally sensitive engagement in communities unfamiliar with this science. Each African context brings its own realities: policy gaps, funding constraints, and diverse healthcare priorities. The challenges are not only country-specific, even in South Africa, they are often not only province-specific but may even be individual hospital-specific. I have worked to overcome these through relentless collaboration — building laboratory and bioinformatic capacity where there was none, creating training pathways for the next generation of African genomic scientists, and establishing trust through respectful, ongoing dialogue with patients and communities. These challenges have not only tested our resourcefulness but also strengthened my belief that Africa can lead in precision medicine when solutions are designed by, and for, Africans."
"The next steps are to scale Genomics for Health in Africa from a proof-of-concept into a sustainable, continent-wide initiative. This means expanding clinical genomics, sequencing and bioinformatics capacity to more African countries, integrating precision medicine into routine clinical public healthcare, and ensuring equitable access for all patients, regardless of geography or resources. I envision a future where African genomic data is not only used to improve health on the continent but also reshapes global understanding of human genetics — with African scientists leading the discovery, innovation, and policy development."